Article

Rare gain-of-function regulatory mutations explain the missing heritability of bicuspid aortic valve

2025-02-23

Abstract excerpt

Bicuspid aortic valve (BAV), a prevalent congenital cardiac defect, predisposes patients to severe complications. Despite its high heritability, previously identified protein-coding and common regulatory mutations account for only a small fraction of cases. To address this gap, we investigated the role of rare regulatory mutations. By integrating high-resolution three-dimensional genome organization profiling with...

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Literature Corpus work: aed63e72-5e4e-5166-a6b9-754e5879a2ca
DOI: 10.1101/2025.02.18.25322302

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